Juvenile xanthogranuloma manifesting with LCH-associated neurodegenerative disease-like radiological findings.

histiocytic disorders juvenile xanthogranuloma neurodegenerative diseases

Journal

Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624

Informations de publication

Date de publication:
28 Apr 2024
Historique:
revised: 05 04 2024
received: 19 02 2024
accepted: 12 04 2024
medline: 29 4 2024
pubmed: 29 4 2024
entrez: 29 4 2024
Statut: aheadofprint

Résumé

Here, we describe two patients with juvenile xanthogranuloma (JXG) manifesting with Langerhans cell histiocytosis (LCH)-associated neurodegenerative disease (ND)-like radiological findings. One patient showed typical radiological abnormalities at onset, which worsened with progressing central nervous system symptoms 7 years after LCH-oriented chemotherapy. Another showed spontaneous regression of clinical symptoms, with a transient radiological change 1 year after salvage chemotherapy for recurrence of JXG. These data regarding JXG-associated ND will facilitate future investigation of the disease, as well as development of therapeutic interventions.

Identifiants

pubmed: 38679849
doi: 10.1002/pbc.31043
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e31043

Informations de copyright

© 2024 Wiley Periodicals LLC.

Références

Durham BH. Molecular characterization of the histiocytoses: neoplasia of dendritic cells and macrophages. Semin Cell Dev Biol. 2019;86:62‐76.
Maeda N, Morimoto A, Shioda Y, et al. Long‐term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan. Pediatr Blood Cancer. 2020;67:e28381.
Emile JF, Abla O, Fraitag S, et al. Revised classification of histiocytoses and neoplasms of the macrophage‐dendritic cell lineages. Blood. 2016;127:2672‐2681.
Cohen Aubart F, Idbaih A, Emile JF, et al. Histiocytosis and the nervous system: from diagnosis to targeted therapies. Neuro Oncol. 2021;23:1433‐1446.
Héritier S, Barkaoui MA, Miron J, et al. Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study. Br J Haematol. 2018;183:608‐617.
Morimoto A, Shioda Y, Imamura T, et al. Intensified and prolonged therapy comprising cytarabine, vincristine and prednisolone improves outcome in patients with multisystem Langerhans cell histiocytosis: results of the Japan Langerhans Cell Histiocytosis Study Group‐02 Protocol study. Int J Hematol. 2016;104:99‐109.
Kinehara T, Umeda K, Saida S, et al. Disseminated xanthogranuloma with multiple lesions of the central nervous system. Jpn J Pediatr Hematol Oncol. 2016;53:152‐157.
Kudo K, Toki T, Kanezaki R, et al. BRAF V600E‐positive cells as molecular markers of bone marrow disease in pediatric Langerhans cell histiocytosis. Haematologica. 2022;107:1719‐1725.
Shimizu S, Sakamoto K, Kudo K, et al. Detection of BRAF V600E mutation in radiological Langerhans cell histiocytosis‐associated neurodegenerative disease using droplet digital PCR analysis. Int J Hematol. 2023;118:119‐124.
Picarsic J, Pysher T, Zhou H, et al. BRAF V600E mutation in juvenile xanthogranuloma family neoplasms of the central nervous system (CNS‐JXG): a revised diagnostic algorithm to include pediatric Erdheim–Chester disease. Acta Neuropathol Commun. 2019;7:168.
Kim S, Lee M, Shin HJ, et al. Coexistence of intracranial Langerhans cell histiocytosis and Erdheim–Chester disease in a pediatric patient: a case report. Childs Nerv Syst. 2016;32:893‐896.
Martin JM, Jordá E, Martín‐Gorgojo A, et al. Histiocytosis with mixed cell populations. J Cutan Pathol. 2016;43:456‐460.
Yeh EA, Greenberg J, Abla O, et al. Evaluation and treatment of Langerhans cell histiocytosis patients with central nervous system abnormalities: current views and new vistas. Pediatr Blood Cancer. 2018;65(1):e26784.
Mass E, Jacome‐Galarza CE, Blank T, et al. A somatic mutation in erythron‐myeloid progenitors causes neurogenerative disease. Nature. 2017;549:389‐393.
Wilk CM, Cathomas F, Török O, et al. Circulating senescent myeloid cells infiltrate the brain and cause neurodegeneration in histiocytic disorders. Immunity. 2023;56:2790‐2802.e6.
Imashuku S, Fujita N, Shioda Y, et al. Follow‐up of pediatric patients treated by IVIG for Langerhans cell histiocytosis (LCH)‐related neurodegenerative CNS disease. Int J Hematol. 2015;101:191‐197.
Allen CE, Flores R, Rauch R, et al. Neurodegenerative central nervous system Langerhans cell histiocytosis and coincident hydrocephalus treated with vincristine/cytosine arabinoside. Pediatr Blood Cancer. 2010;54:416‐423.
Ehrhardt MJ, Karst J, Donohoue PA, et al. Recognition and treatment of concurrent active and neurodegenerative Langerhans cell histiocytosis: a case report. J Pediatr Hematol Oncol. 2015;37:e37‐e40.
McClain KL, Picarsic J, Chakraborty R, et al. CNS Langerhans cell histiocytosis: common hematopoietic origin for LCH‐associated neurodegeneration and mass lesion. Cancer. 2018;124:2607‐2620.

Auteurs

Tomoo Daifu (T)

Department of Pediatrics, Japanese Red Cross Otsu Hospital, Otsu, Japan.

Katsutsugu Umeda (K)

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Atsushi Yokoyama (A)

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Takeshi Yoshida (T)

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Satoshi Saida (S)

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Itaru Kato (I)

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Hidefumi Hiramatsu (H)

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Ko Kudo (K)

Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

Yoshihisa Higuchi (Y)

Department of Pediatrics, Japanese Red Cross Otsu Hospital, Otsu, Japan.

Junko Takita (J)

Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Classifications MeSH